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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Among authors: finlayson s. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.
Congenital myasthenic syndromes: an update.
Finlayson S, Beeson D, Palace J. Finlayson S, et al. Pract Neurol. 2013 Apr;13(2):80-91. doi: 10.1136/practneurol-2012-000404. Pract Neurol. 2013. PMID: 23468559 Review. No abstract available.
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S, Palace J, Belaya K, Walls TJ, Norwood F, Burke G, Holton JL, Pascual-Pascual SI, Cossins J, Beeson D. Finlayson S, et al. J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27. J Neurol Neurosurg Psychiatry. 2013. PMID: 23447650 Free PMC article.
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CD, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-Hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J. Finlayson S, et al. Muscle Nerve. 2016 Aug;54(2):211-9. doi: 10.1002/mus.25035. Epub 2016 Feb 22. Muscle Nerve. 2016. PMID: 26789134 Free PMC article.
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA. Klein A, et al. Among authors: finlayson s. Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3. Neuromuscul Disord. 2013. PMID: 23831158
Open letter to prime minister David Cameron and health secretary Andrew Lansley.
Nicholl DJ, Hilton-Jones D, Palace J, Richmond S, Finlayson S, Winer J, Weir A, Maddison P, Fletcher N, Sussman J, Silver N, Nixon J, Kullmann D, Embleton N, Beeson D, Farrugia ME, Hill M, McDermott C, Llewelyn G, Leonard J, Morris M. Nicholl DJ, et al. Among authors: finlayson s. BMJ. 2010 Nov 16;341:c6466. doi: 10.1136/bmj.c6466. BMJ. 2010. PMID: 21081599 No abstract available.
246 results